Departments of Pediatrics and Neurology
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Membrane traffic and muscle: lessons from human disease.
Traffic (Copenhagen, Denmark) Jul, 2008 | Pubmed ID: 18266915
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
PLoS genetics Feb, 2009 | Pubmed ID: 19197364
The role of MTMR14 in autophagy and in muscle disease.
Autophagy Aug, 2010 | Pubmed ID: 20595810
Synapses on demand require dendrites at the ready: how defining stages of dendritic development in vitro could inform studies of behaviorally driven information storage in the brain.
Developmental psychobiology Jul, 2011 | Pubmed ID: 21678392
Congenital myopathies: an update.
Current neurology and neuroscience reports Apr, 2012 | Pubmed ID: 22392505
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
Journal of molecular medicine (Berlin, Germany) Jun, 2013 | Pubmed ID: 23338057
Two dynamin-2 genes are required for normal zebrafish development.
PloS one , 2013 | Pubmed ID: 23418470
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.
Current opinion in neurology Apr, 2013 | Pubmed ID: 23449172
Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.
The FEBS journal Jun, 2013 | Pubmed ID: 23809187
Defective tubulation associated with the myopathy causing S619L DNM2 mutation.
Disease models & mechanisms Oct, 2013 | Pubmed ID: 24135484
Differentiation-related glycan epitopes identify discrete domains of the muscle glycocalyx.
Glycobiology Oct, 2016 | Pubmed ID: 27236198
High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.
Human molecular genetics 12, 2016 | Pubmed ID: 27798107
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